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Article

[X-linked adrenoleukodystrophy].

Annales d'endocrinologie - 1 Dec 2007

Aubourg P

Abstract excerpt

X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder. ALD is characterized by progressive demyelination within the central and peripheral nervous system, adrenal insufficiency (Addison's disease) and accumulation of very-long-chain fatty acids (VLCFA) in plasma, fibroblasts and tissues. The overall incidence of ALD is 1:17,000 including hemizygotes and heterozygotes who are frequently...

Topics

Adrenoleukodystrophy
Adult
Child
Child, Preschool
Chromosomes, Human, X
Female
Genetic Carrier Screening
Humans
Male
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 17532287
DOI: 10.1016/j.ando.2007.04.002

Genes

ABCD1
AMN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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